NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) AND Bethlem myopathy 1A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001084362.16
Allele description [Variation Report for NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)]
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024